Results 131 to 140 of about 1,469 (156)

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease [PDF]

Kidney International, 2000
Dent's disease is an X-linked renal tubular disorder that is characterized by low molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. The disease is caused by inactivation of a renal chloride channel gene, CLCN5, that encodes a 746-amino acid protein with 12 to 13 transmembrane domains.
Rajesh V Thakker
exaly   +3 more sources

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases [PDF]

Kidney International, 2000
Tubular proteinuria defined by a study of Dent's ( CLCN5 mutation) and other tubular diseases.The term "tubular proteinuria" is often used interchangeably with "low molecular weight proteinuria" (LMWP), although the former implies a definite etiology. A specific quantitative definition of tubular proteinuria is needed, and we address this by studying ...
Rajesh V Thakker
exaly   +3 more sources

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Transcriptional adaptation to Clcn5 knockout in proximal tubules of mouse kidney

Physiological Genomics, 2008
Dent disease has multiple defects attributed to proximal tubule malfunction including low-molecular-weight proteinuria, aminoaciduria, phosphaturia, and glycosuria. To understand the changes in kidney function of the Clc5 chloride/proton exchanger gene knockout mouse model of Dent disease, we examined gene expression profiles from proximal S1 and S2 ...
Jerry, Wright, Marcelo M, Morales, Jackson, Sousa-Menzes, Debora, Ornellas, Jennifer, Sipes, Yan, Cui, Isabelle, Cui, Phuson, Hulamm, Valeriu, Cebotaru, Liudmila, Cebotaru, William B, Guggino, Sandra E, Guggino   +11 more
openaire   +2 more sources

A novel CLCN5 mutation in a Chinese boy with Dent’s disease

World Journal of Pediatrics, 2014
Dent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.We report a ...
Li-Na, Ji, Chao-Ying, Chen, Jing-Jing, Wang, Li, Cao   +3 more
openaire   +2 more sources

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations

DNA and Cell Biology, 2017
Dent's disease is an X-linked inherited renal disease. Patients with Dent's disease often carry mutations in genes encoding the Cl-/H+ exchanger ClC-5 and/or inositol polyphosphate 5-phosphatase (OCRL1). However, the mutations involved and the biochemical effects of these mutations are not fully understood.
Ya, Zhang, Xiaoyan, Fang, Hong, Xu, Qian, Shen   +3 more
openaire   +2 more sources

Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene.

Journal of pediatric genetics, 2013
Dent's disease is an X-linked proximal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This disorder is frequently caused by mutations in the CLCN5 gene encoding the electrogenic chloride/proton exchanger ClC-5.
Ramos-Trujillo, Elena, Claverie-Martin, Felix, Garcia-Nieto, Victor, Ariceta, Gema, Vara, Julia, Gonzalez-Acosta, Hilaria, Garcia-Ramirez, Marta, Fons, Jaime, Cordoba-Lanus, Elizabeth, Gonzalez-Paredes, Javier, Valenciano, Blanca, Ramos, Leticia, Muley, Rafael, Caggiani, Marina, Alvarez-Estrada, Pilar, Madrid, Alvaro, for the RenalTube Group   +16 more
openaire   +2 more sources

Dent’s disease: identification of a novel mutation in the renal chloride channel CLCN5

Clinical Nephrology, 2004
Dent's disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis or nephrocalcinosis, rickets and eventual-progressive renal failure. Onset of clinical symptoms show a great variability, making a diagnosis at an early stage of the
S, Brakemeier, H, Si, M, Gollasch, D, Höffler, M, Buhl, R, Köhler, J, Hoyer, I, Eichler   +7 more
openaire   +2 more sources

A second family with XLRH displays the mutation S244L in the CLCN5 gene

Human Genetics, 1997
Mutations in the CLCN5 gene, mapped in Xp11.22, have been recently reported to be associated with X-linked nephrolithiasis, X-linked recessive hypophosphataemic rickets and Dent's disease. We report a missense mutation in exon 6 of the CLCN5 gene. The mutation in this pedigree is S244L, the same mutation as has previously been described in an Italian ...
C, Oudet, D, Martin-Coignard, S, Pannetier, E, Praud, G, Champion, A, Hanauer   +5 more
openaire   +2 more sources

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria [PDF]

Kidney International, 1999
Familial idiopathic low molecular weight proteinuria (FILMWP) is a renal proximal tubulopathy characterized by mild proteinuria consisting of low molecular weight proteinuria and relatively conserved renal function in young patients, but without rickets.
Nakazato, Hitoshi, Yoshimuta, Junichiro, Karashima, Shinnyo, Matsumoto, Shinichi, Endo, Fumio, Matsuda, Ichiro, Hattori, Shinzaburo   +6 more
exaly   +3 more sources

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets

Clinical Endocrinology, 2017
SummaryContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.ObjectiveTo investigate underlying genetic defects in patients with hypophosphataemic rickets.MethodsWe analysed genomic DNA from nine unrelated families for mutations in the ...
Ayla Guven, Roua A. Al‐Rijjal, Huda A. BinEssa, Durmuş Dogan, Yılmaz Kor, Minjing Zou, Namik Kaya, Anwar F. Alenezi, Suna Hancili, Ömer Tarım, Essa Y. Baitei, Walaa E Kattan, Brian F. Meyer, Yufei Shi   +13 more
openaire   +4 more sources